Submissions for variant NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His)

gnomAD frequency: 0.81536  dbSNP: rs3208008

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455171	SCV000540229	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588747	SCV000699752	benign	not provided	2017-07-10	criteria provided, single submitter	clinical testing	Variant summary: The RTEL1 c.3198A>C (p.Gln1066His) variant involves the alteration of a non-conserved nucleotide that 4/4 in silico tools predict a benign outcome. This variant was found in 87362/115752 control chromosomes (33743 homozygotes) at a frequency of 0.7547343, which indicates that the C allele is the major allele found in the general population. In addition, a clinical diagnostic laboratory classified this variant as benign. Therefore, due to the allele frequency observed in the general control population, the variant of interest has been classified as Benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523489	SCV001733199	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543257	SCV001761784	benign	Dyskeratosis congenita, autosomal recessive 5	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543258	SCV001761785	benign	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000588747	SCV001864073	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27128385, 23329068)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455171	SCV004232951	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 89% of patients studied by a panel of primary immunodeficiencies. Number of patients: 85. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000588747	SCV005314102	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273632	SCV001456923	benign	Dyskeratosis congenita	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000455171	SCV001927474	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000455171	SCV001953376	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000455171	SCV001971222	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV000588747	SCV002074743	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.